Results 91 to 100 of about 1,012,341 (230)

A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Johanna Strobl, Peter Maximilian Heil
wiley   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2080-2087, September 2026.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

A case of coexistence of Marfan and Ehlers-Danlos syndromes in a 15-year-old boy

, 2014
Marfan syndrome (MS) and Ehlers-Danlos syndrome (EDS) are examples of two rare genetic diseases characterized by disturbances in the structure of collagen.
Agnieszka Gazda, Zbigniew Swacha, Lidia Rutkowska-Sak   +2 more
core   +1 more source

Vascular Ehlers-Danlos syndrome —All three coronary artery spontaneous dissections [PDF]

, 2009
SummaryVascular Ehlers-Danlos syndrome is an inherited connective-tissue disorder causing arterial and gastrointestinal fragility and spontaneous rupture of the large arteries, uterus, or bowel.
Ogasawara, Ken, Uejima, Tokuhisa, Oikawa, Yuji, Abe, Keiko, Yajima, Junji, Aizawa, Tadanori, Nakamura, Michinari   +6 more
core   +1 more source

Eosinophilic Gastroenteritis in a Patient with Ehlers-Danlos Syndrome - A Rare Combination

Canadian Journal of Gastroenterology, 1992
A case of eosinophilic gastroenteritis in a patient with Ehlers-Danlos syndrome who presented with abdominal pain, vomiting, diarrhea and profound weight loss is presented. Because of inability to tolerate glucocorticosteroids, symptoms were treated with
I Al-Traif, L Jewell, ABR Thomson
doaj   +1 more source

Cystic Medial Degeneration Leading to Popliteal Artery Aneurysm With Distal Embolization

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Cystic medial degeneration is a rare process that can cause aneurysmal degeneration of arteries including the aorta, iliac arteries, femoral arteries, and popliteal arteries. In this report we discuss a case of a popliteal artery aneurysm caused by cystic medial necrosis that led to distal embolization.
Victor Cabrera‐Bou, Tuleagh Innes‐Gawn, Adam Levitt, Julio Calderin   +3 more
wiley   +1 more source

Ehlers–Danlos Syndrome: Not Just Joint Hypermobility

, 2018
Ehlers–Danlos syndrome is an umbrella term for a group of heritable soft connective tissue disorders which is characterized by joint hypermobility, skin texture and elasticity abnormalities, and visceral and vascular fragility or dysfunctions.
Tina Bregant, Milica Klopcic Spevak
core   +1 more source

Prenatally diagnosed cleft lip and palate: Prenatal findings, clinical outcomes, genetic results, and sequencing yield in isolated versus non‐isolated cases

Pregnancy, Volume 2, Issue 5, September 2026.
Abstract Introduction Cleft lip and palate (CLP) are common congenital disruptions of the orofacial cleft and are associated with numerous genetic conditions. This study examines prenatal findings, clinical outcomes, and genetic findings among prenatally diagnosed CLP, with a focus on the yield of next‐generation sequencing (NGS).
Thomas P. Kishkovich, Gabriela F. Tessler, Meghan Angley, Yijia Zhang, Thomas A. Imahiyerobo, Sherelle L. Laifer‐Narin, Hong Ma, Lynn Simpson, Caitlin D. Baptiste, Jessica L. Giordano, Russell S. Miller, Ronald J. Wapner   +11 more
wiley   +1 more source

Level of Agreement in Perceived Improvement in a Cohort of Parent–Child Dyads Following an Interdisciplinary Pain Management Program

Paediatric and Neonatal Pain, Volume 8, Issue 3, September 2026.
ABSTRACT This study assessed the level of agreement of perceived improvements among pediatric patients with chronic pain and their parents following an interdisciplinary pain management program. This is a retrospective chart review of a heterogeneous group of pediatric patients with chronic pain who completed an interdisciplinary pain management ...
Christine M. Gagnon, Paul M. Scholten, Diane Amstutz   +2 more
wiley   +1 more source

Comorbidity between Autism Spectrum Disorders and hypermobile Ehlers-Danlos syndrome

, 2021
The main goal of this study is to assess the comorbidity between hypermobile Ehlers-Danlos Syndrome (hEDS) symptoms and Autism Spectrum disorders (ASD ...
Morgane Burnel
core   +1 more source